Journal articles on the topic 'Syndrome de Shwachman-Diamond'
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Tesakov, I. P., E. A. Deordieva, T. G. Brontveyn, and A. N. Sveshnikova. "Shwachman–Diamond syndrome: a hematologist's view." Pediatric Hematology/Oncology and Immunopathology 22, no. 3 (October 3, 2023): 185–91. http://dx.doi.org/10.24287/1726-1708-2023-22-3-185-191.
Full textTan, Huihan, Dequan Su, and Zhiqiang Zhuo. "Shwachman-diamond syndrome." Medicine 100, no. 7 (February 19, 2021): e24712. http://dx.doi.org/10.1097/md.0000000000024712.
Full textSabirova, D. R., A. R. Shakirova, I. I. Ramazanova, and N. V. Shakurova. "Shwachman–Diamond Syndrome." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 66, no. 5 (December 9, 2021): 223–26. http://dx.doi.org/10.21508/1027-4065-2021-66-5-223-226.
Full textShimamura, Akiko. "Shwachman-Diamond Syndrome." Seminars in Hematology 43, no. 3 (July 2006): 178–88. http://dx.doi.org/10.1053/j.seminhematol.2006.04.006.
Full textDror, Yigal, and Melvin H. Freedman. "Shwachman-Diamond Syndrome." British Journal of Haematology 118, no. 3 (August 15, 2002): 701–13. http://dx.doi.org/10.1046/j.1365-2141.2002.03585.x.
Full textMack, David R. "Shwachman-Diamond syndrome." Journal of Pediatrics 141, no. 2 (August 2002): 164–65. http://dx.doi.org/10.1067/mpd.2002.126918.
Full textSmith, O. P. "Shwachman-Diamond syndrome." Seminars in Hematology 39, no. 2 (April 2002): 95–102. http://dx.doi.org/10.1053/shem.2002.31915.
Full textDall’Oca, C., M. Bondi, M. Merlini, M. Cipolli, F. Lavini, and P. Bartolozzi. "Shwachman–Diamond syndrome." MUSCULOSKELETAL SURGERY 96, no. 2 (December 27, 2011): 81–88. http://dx.doi.org/10.1007/s12306-011-0174-z.
Full textAndolina, Jeffrey R., Colleen B. Morrison, Alexis A. Thompson, Sonali Chaudhury, A. Kyle Mack, Maria Proytcheva, and Seth J. Corey. "Shwachman-Diamond Syndrome." Journal of Pediatric Hematology/Oncology 35, no. 6 (August 2013): 486–89. http://dx.doi.org/10.1097/mph.0b013e3182667c13.
Full textMaslak, P. "Shwachman-Diamond Syndrome." ASH Image Bank 2005, no. 0314 (March 14, 2005): 101320. http://dx.doi.org/10.1182/ashimagebank-2005-101320.
Full textDror, Yigal. "Shwachman-Diamond syndrome." Pediatric Blood & Cancer 45, no. 7 (2005): 892–901. http://dx.doi.org/10.1002/pbc.20478.
Full textMyers, Kasiani C., Audrey Anna Bolyard, Jamie Leung, Joan Moore, Sara Loveless, Leann Mount, Richard E. Harris, et al. "The North American Shwachman-Diamond Syndrome Registry: Genetically Undefined Shwachman-Diamond Syndrome." Blood 126, no. 23 (December 3, 2015): 3614. http://dx.doi.org/10.1182/blood.v126.23.3614.3614.
Full textCipolli, Marco. "Shwachman-Diamond Syndrome: Clinical Phenotypes." Pancreatology 1, no. 5 (January 2001): 543–48. http://dx.doi.org/10.1159/000055858.
Full textHall, G. W. "Shwachman-Diamond syndrome: UK perspective." Archives of Disease in Childhood 91, no. 6 (June 1, 2006): 521–24. http://dx.doi.org/10.1136/adc.2003.046151.
Full textJha, Ajaya Kumar, Deepak Bansal, Sheetal Sharda, Peter Ray, Leslie Steele, Neelam Varma, Akshay K. Saxena, and Ram Kumar Marwaha. "Shwachman-Diamond syndrome in India." Pediatric Blood & Cancer 58, no. 3 (October 11, 2011): 479–80. http://dx.doi.org/10.1002/pbc.23332.
Full textMinelli, Antonella, Elena Nicolis, Zemira Cannioto, Daniela Longoni, Sandra Perobelli, Francesco Pasquali, Laura Sainati, Furio Poli, Marco Cipolli, and Cesare Danesino. "Incidence of Shwachman-Diamond syndrome." Pediatric Blood & Cancer 59, no. 7 (August 8, 2012): 1334–35. http://dx.doi.org/10.1002/pbc.24260.
Full textShimamura, A. "SHWACHMAN-DIAMOND SYNDROME AND TELOMEROPATHY." Leukemia Research 128 (May 2023): 107096. http://dx.doi.org/10.1016/j.leukres.2023.107096.
Full textKopel, Liliane, Paulo S. Gutierrez, and Silvia G. Lage. "Dilated cardiomyopathy in a case of Shwachman–Diamond syndrome." Cardiology in the Young 21, no. 5 (April 13, 2011): 588–90. http://dx.doi.org/10.1017/s1047951111000308.
Full textErdős, Melinda, and László Maródi. "Shwachman–Diamond syndrome: Clinical manifestations and molecular genetics." Orvosi Hetilap 148, no. 11 (March 1, 2007): 513–19. http://dx.doi.org/10.1556/oh.2007.27922.
Full textShimamura, Akiko. "Inherited Bone Marrow Failure Syndromes: Molecular Features." Hematology 2006, no. 1 (January 1, 2006): 63–71. http://dx.doi.org/10.1182/asheducation-2006.1.63.
Full textMyers, Kasiani C., Audrey Anna Bolyard, Barbara Otto, Nicholas Dobbins, Amanda Jones, Trisha E. Wong, Richard E. Harris, Stella M. Davies, David C. Dale, and Akiko Shimamura. "Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update From the North-American Shwachman-Diamond Syndrome Registry." Blood 120, no. 21 (November 16, 2012): 2367. http://dx.doi.org/10.1182/blood.v120.21.2367.2367.
Full textKaabar, Mohamed, Pierre Lemaire, Vincent Cussac, Anne Besancon, Dominique Martin-Coignard, Odile Fenneteau, Kamel Laribi, and Fabienne Pineau-Vincent. "Shwachman-Diamond syndrome: a case report." Annales de biologie clinique 76, no. 4 (July 2018): 435–38. http://dx.doi.org/10.1684/abc.2018.1358.
Full textPressato, Barbara, Roberto Valli, Cristina Marletta, Lydia Mare, Giuseppe Montalbano, Francesco Lo Curto, Francesco Pasquali, and Emanuela Maserati. "Cytogenetic Monitoring in Shwachman-Diamond Syndrome." Journal of Pediatric Hematology/Oncology 37, no. 4 (May 2015): 307–10. http://dx.doi.org/10.1097/mph.0000000000000268.
Full textWilschanski, Michael, Ellen van der Hoeven, Jim Phillips, Bruce Shuckett, and Peter Durie. "Shwachman-Diamond Syndrome Presenting as Hepatosplenomegaly." Journal of Pediatric Gastroenterology and Nutrition 19, no. 1 (July 1994): 111–13. http://dx.doi.org/10.1097/00005176-199407000-00019.
Full textSmith, Owen P., Ian M. Hann, Judith M. Chessells, Brian R. Reeves, and Peter Milla. "Haematological abnormalities in Shwachman-Diamond syndrome." British Journal of Haematology 94, no. 2 (August 1996): 279–84. http://dx.doi.org/10.1046/j.1365-2141.1996.d01-1788.x.
Full textAlbrecht, Lindsey A., Sandra W. Gorges, Dennis M. Styne, and Andrew A. Bremer. "Shwachman-Diamond Syndrome Presenting as Hypoglycemia." Clinical Pediatrics 48, no. 2 (October 2, 2008): 212–14. http://dx.doi.org/10.1177/0009922808323114.
Full textCosta, Elísio, and Rosário Santos. "Hematologically important mutations: Shwachman–Diamond syndrome." Blood Cells, Molecules, and Diseases 40, no. 2 (March 2008): 183–84. http://dx.doi.org/10.1016/j.bcmd.2007.07.008.
Full textSharma, Vagisha, Sheetal Ahuja, and Amitabh Singh. "Shwachman Diamond Syndrome – A diagnostic challenege." Pediatric Hematology Oncology Journal 7, no. 4 (2022): S44. http://dx.doi.org/10.1016/j.phoj.2022.10.137.
Full textRuggiero, Antonio, Francesco Molinari, Paola Coccia, Giorgio Attinà, Palma Maurizi, Riccardo Riccardi, and Lorenzo Bonomo. "MRI findings in Shwachman diamond syndrome." Pediatric Blood & Cancer 50, no. 2 (2007): 352–54. http://dx.doi.org/10.1002/pbc.21109.
Full textWhitcomb, David C. "The genetics of Shwachman-Diamond syndrome." Gastroenterology 125, no. 5 (November 2003): 1541–43. http://dx.doi.org/10.1016/j.gastro.2003.04.007.
Full textWilschanski, Michael, Ellen van der Hoeven, Jim Phillips, Bruce Shuckett, and Peter Durie. "Shwachman‐Diamond Syndrome Presenting as Hepatosplenomegaly." Journal of Pediatric Gastroenterology and Nutrition 19, no. 1 (July 1994): 111–13. http://dx.doi.org/10.1002/j.1536-4801.1994.tb11251.x.
Full textLiu, Zumiao, Qing Tang, Xiuqi Chen, Li Huang, Liancheng Lan, Zili Lv, Xia Yang, and Qingwen Shan. "Shwachman–Diamond syndrome: A case report." Medicine 103, no. 36 (September 6, 2024): e39210. http://dx.doi.org/10.1097/md.0000000000039210.
Full textReed, Helen D., Hyunwoo Do, Edie A. Weller, Marian H. Harris, Jason E. Farrar, Bonnie W. Lau, Lauren Pommert, et al. "Lymphoid Malignancies in Shwachman-Diamond Syndrome." Blood 144, Supplement 1 (November 5, 2024): 5707. https://doi.org/10.1182/blood-2024-200116.
Full textMyers, Kasiani C., Audrey Anna Bolyard, Barbara Otto, Trisha E. Wong, Amanda T. Jones, Richard E. Harris, Stella M. Davies, David C. Dale, and Akiko Shimamura. "Variable Clinical Presentation of Shwachman–Diamond Syndrome: Update from the North American Shwachman–Diamond Syndrome Registry." Journal of Pediatrics 164, no. 4 (April 2014): 866–70. http://dx.doi.org/10.1016/j.jpeds.2013.11.039.
Full textKawashima, Nozomu, Valentino Bezzerri, and Seth J. Corey. "The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis." Biomolecules 13, no. 8 (August 16, 2023): 1249. http://dx.doi.org/10.3390/biom13081249.
Full textErtunç, Mehmet Emin, Ahmet Genar Çelik, Akif Tahiroğlu, and Ekrem Ünal. "Inherited Bone Marrow Failure Syndromes in Children." Journal of Pediatric Academy 4, no. 1 (March 31, 2023): 1–5. http://dx.doi.org/10.4274/jpea.2023.218.
Full textGalpalli, Jayprakash, and Monali Mahajan. "Anaesthesia Management of Shwachman - Diamond Syndrome Child Posted for Dental Rehabilitation." International Journal of Science and Research (IJSR) 13, no. 8 (August 5, 2024): 1260–61. http://dx.doi.org/10.21275/sr24818155305.
Full textMyers, Kasiani C., Susan R. Rose, Meilan M. Rutter, Parinda A. Mehta, Jane C. Khoury, Theresa Cole, and Richard E. Harris. "Endocrine Evaluation of Children with and without Shwachman-Bodian-Diamond Syndrome Gene Mutations and Shwachman-Diamond Syndrome." Journal of Pediatrics 162, no. 6 (June 2013): 1235–40. http://dx.doi.org/10.1016/j.jpeds.2012.11.062.
Full textBezzerri, Valentino, Donatella Bardelli, Jacopo Morini, Antonio Vella, Simone Cesaro, Claudio Sorio, Andrea Biondi, et al. "Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells." American Journal of Hematology 93, no. 4 (February 9, 2018): 527–36. http://dx.doi.org/10.1002/ajh.25025.
Full textBerezenko, V. S., Yu I. Proshchenko, Kh Z. Mykhayluk, M. B. Dyba, O. M. Tkalik, and Yu O. Savenko. "Primary exocrine pancreatic insufficiency in children (a clinical case of Shwachman-Diamond syndrome)." CHILD`S HEALTH 19, no. 7 (November 30, 2024): 464–69. https://doi.org/10.22141/2224-0551.19.7.2024.1759.
Full textNikolaeva, N. V., M. L. Babayan, and L. A. Kharitonova. "Shwachman-diamond syndrome: how not to miss a serious illness." Experimental and Clinical Gastroenterology, no. 1 (January 18, 2024): 173–76. http://dx.doi.org/10.31146/1682-8658-ecg-221-1-173-176.
Full textWarren, Alan John. "Linking Defective Ribosome Maturation to Shwachman-Diamond Syndrome." Blood 122, no. 21 (November 15, 2013): SCI—36—SCI—36. http://dx.doi.org/10.1182/blood.v122.21.sci-36.sci-36.
Full textWarren, Alan J. "Shwachman-Diamond Syndrome and the Quality Control of Ribosome Assembly." Blood 128, no. 22 (December 2, 2016): SCI—42—SCI—42. http://dx.doi.org/10.1182/blood.v128.22.sci-42.sci-42.
Full textDror, Yigal. "p53 Protein Overexpression in Shwachman-Diamond Syndrome." Archives of Pathology & Laboratory Medicine 126, no. 10 (October 1, 2002): 1157–58. http://dx.doi.org/10.5858/2002-126-1157b-ppoiss.
Full textKhavkin, A. I., N. S. Rachkova, and S. L. Morozov. "A clinical case of Shwachman–Diamond syndrome." Voprosy detskoj dietologii 10, no. 5 (2012): 64–68. http://dx.doi.org/10.20953/1727-5784-2012-5-64-68.
Full textKirkham, SE, J. Hinks, M. Schwarz, Z. Ahmad, C. Mason, KJ Lindley, P. Ancliff, and N. Shah. "GENOTYPE-PHENOTYPE CORRELATION IN SHWACHMAN-DIAMOND SYNDROME." Journal of Pediatric Gastroenterology and Nutrition 40, no. 5 (May 2005): 630. http://dx.doi.org/10.1097/00005176-200505000-00060.
Full textMyers, Kasiani C., Elissa Muse Furutani, Sara Loveless, Maggie Malsch, Ashley Galvin, Ellie Fratt, Jordan Larson, et al. "The Shwachman-Diamond Syndrome Registry: Hematologic Complications." Blood 132, Supplement 1 (November 29, 2018): 3871. http://dx.doi.org/10.1182/blood-2018-99-117582.
Full textMcReynolds, Lisa J., Kristine Jones, Kedest Teshome, Alyssa Kennedy, Akiko Shimamura, Neelam Giri, Blanche P. Alter, and Sharon A. Savage. "Large Genomic Deletions in Shwachman-Diamond Syndrome." Blood 132, Supplement 1 (November 29, 2018): 2586. http://dx.doi.org/10.1182/blood-2018-99-118495.
Full textGrinspan, Zachary M., and Cheryl A. Pikora. "Infections in Patients with Shwachman-Diamond Syndrome." Pediatric Infectious Disease Journal 24, no. 2 (February 2005): 179–81. http://dx.doi.org/10.1097/01.inf.0000151042.90125.f6.
Full textWong, Chi C., David Traynor, Nicolas Basse, Robert R. Kay, and Alan J. Warren. "Defective ribosome assembly in Shwachman-Diamond syndrome." Blood 118, no. 16 (October 20, 2011): 4305–12. http://dx.doi.org/10.1182/blood-2011-06-353938.
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